Canonical Allele Identifier: CA546228082

Gene: RHO

Linked Data

• dbSNP Id: rs1222852881
• gnomAD v2: 3-129249413-A-C
• gnomAD v3: 3-129530570-A-C
• gnomAD v4: 3-129530570-A-C
• MyVariant Identifiers: chr3:g.129249413A>C (hg19) ; chr3:g.129530570A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530570A>C , CM000665.2:g.129530570A>C	GRCh38
NC_000003.11:g.129249413A>C , CM000665.1:g.129249413A>C	GRCh37
NC_000003.10:g.130732103A>C	NCBI36
NG_009115.1:g.6932A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.362-306A>C MANE Select	ENSP00000296271.3:n.362-306A>C
ENST00000296271.3:c.362-306A>C	ENSP00000296271.3:n.362-306A>C
NM_000539.3:c.362-306A>C MANE Select	NP_000530.1:n.362-306A>C